Aliases for MYH7 Gene
External Ids for MYH7 Gene
Previous HGNC Symbols for MYH7 Gene
Previous GeneCards Identifiers for MYH7 Gene
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
GeneCards Summary for MYH7 Gene
MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta) is a Protein Coding gene. Diseases associated with MYH7 include cardiomyopathy, dilated, 1e and myopathy, myosin storage. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and ATPase activity. An important paralog of this gene is MYH4.
UniProtKB/Swiss-Prot for MYH7 Gene
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.